Results 111 to 120 of about 29,161 (207)

A Noncanonical MET Exon 14 Splice‐Site Variant in Pulmonary Sarcomatoid Carcinoma With Response to Capmatinib

Thoracic Cancer, Volume 17, Issue 15, August 2026.
We describe a patient with pulmonary sarcomatoid carcinoma harboring a noncanonical MET splice donor–proximal indel, initially reported as a VUS, who achieved a rapid response to capmatinib. RNA sequencing and ddPCR confirmed exon 14 skipping, supporting orthogonal transcript‐level validation for exon‐adjacent variants. ABSTRACT MET exon 14 skipping is
Hyung‐Joo Oh, Yoo‐Duk Choi, Yoon‐La Choi, Ha‐Young Park, Joon‐Young Yoon, Jang‐Hyeon Kim, Jung‐Hwan Lim, Cheol‐Kyu Park, In‐Jae Oh, Young‐Chul Kim   +9 more
wiley   +1 more source

From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation.

PLoS Genetics
Pathogenic variants in the OCA2 gene result in oculocutaneous albinism. In humans and several other mammalian species, OCA2 is transcribed into two coding mRNAs, a major transcript that encodes the full-length protein and a minor transcript that skips in-
Elina Mercier, David-Alexandre Trégouët, Sébastien Campagne, Vincent Michaud, David J Green, Shahram Mesdaghi, Orane Le Gallais, Orphée Jouannigot-Castano, Daniel J Rigden, Catherine Estay-Ahumada, David Hicks, Panagiotis I Sergouniotis, Benoit Arveiler, Sophie Javerzat   +13 more
doaj   +1 more source

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, Volume 104, Issue 5, Page e555-e564, August 2026.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source

MTAP Deficiency as a Metabolic Vulnerability in Cancer: Implications for Synthetic Lethal Therapy

Cancer Science, Volume 117, Issue 8, Page 2085-2097, August 2026.
MTAP deletion creates a therapeutically actionable metabolic vulnerability through MTA accumulation and PRMT5 dependency. This review summarizes the biochemical basis of MTAP‐directed synthetic lethality, emerging PRMT5/MAT2A inhibitors, clinicogenomic features of MTAP‐deleted tumors, and future strategies for precision oncology.
Hiroaki Ikushima, Hidenori Kage
wiley   +1 more source

Circular RNAs in Lotus japonicus Responses to Nutrient Supply and Mesorhizobium Symbiosis

Plant, Cell &Environment, Volume 49, Issue 8, Page 4823-4839, August 2026.
ABSTRACT Symbiotic interactions between legumes and rhizobia enable nitrogen fixation under low nutrient conditions. The establishment and function of symbiotic interactions require coordinated changes in gene expression in both the host and the microbe. Circular RNAs (circRNAs) are endogenous gene‐specific molecules that can regulate transcription and
Delecia Utley, Asa Budnick, Simona Radutoiu, Heike Sederoff   +3 more
wiley   +1 more source

Exon Skipping of Cathepsin B [PDF]

Journal of Biological Chemistry, 2004
Kathrin Müntener, Roman Zwicky, Gabor Csucs, Jack Rohrer, Antonio Baici   +4 more
openaire   +1 more source

Exon-Skipping [PDF]

, 2018
openaire   +1 more source

Inverted Alu repeats in loop-out exon skipping across hominoid evolution. [PDF]

Nucleic Acids Res
Denisko D, Kim J, Ku J, Zhao B, Lee EA.
europepmc   +1 more source

Alu-mediated RNA duplexes are associated with widespread exon skipping across primate transcriptomes. [PDF]

Genome Biol
Lee H, Cao X, Parada GE, Li JD, Iosub IA, Braunschweig U, Rebelo K, Ule J, Wan Y, Blencowe BJ.   +9 more
europepmc   +1 more source

tRF-3005a regulates exon skipping of SPAG4 by interacting with RALY to drive gastric cancer progression. [PDF]

Cell Death Discov
Cui H, Yuan Y, Yin Y, Gao R, Liu Z, Peng L, Wang J, Wang Z, Song T, Liu J.   +9 more
europepmc   +1 more source